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rs587776616

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587776616(-;-)
Make rs587776616(-;A)
ReferenceGRCh38 38.1/142
Chromosome7
Position138771143
GeneATP6V0A4
is asnp
is mentioned by
dbSNPrs587776616
dbSNP (classic)rs587776616
ClinGenrs587776616
ebirs587776616
HLIrs587776616
Exacrs587776616
Gnomadrs587776616
Varsomers587776616
LitVarrs587776616
Maprs587776616
PheGenIrs587776616
Biobankrs587776616
1000 genomesrs587776616
hgdprs587776616
ensemblrs587776616
geneviewrs587776616
scholarrs587776616
googlers587776616
pharmgkbrs587776616
gwascentralrs587776616
openSNPrs587776616
23andMers587776616
SNPshotrs587776616
SNPdbers587776616
MSV3drs587776616
GWAS Ctlgrs587776616
Max Magnitude0
ClinVar
Risk rs587776616(-;-)
Alt rs587776616(-;-)
Reference Rs587776616(A;A)
Significance Pathogenic
Disease Renal tubular acidosis
Variation info
Gene ATP6V0A4
CLNDBN Renal tubular acidosis, distal, autosomal recessive
Reversed 0
HGVS NC_000007.13:g.138455888delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005460.3,